Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001653134 | SCV001871321 | uncertain significance | not provided | 2021-08-23 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV001653134 | SCV002362687 | benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003146226 | SCV003831358 | uncertain significance | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 2022-04-13 | criteria provided, single submitter | clinical testing |